Encyclopedia of Medical Immunology

2014 Edition
| Editors: Ian R. Mackay, Noel R. Rose, Betty Diamond, Anne Davidson

PBC Genetics

Reference work entry
First Online:
DOI: https://doi.org/10.1007/978-0-387-84828-0_516
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Synonyms

Chronic nonsuppurative destructive cholangitis; Primary biliary cirrhosis

Primary Biliary Cirrhosis

Primary biliary cirrhosis (PBC) is a chronic cholestatic liver disease characterized by progressive destruction of small/medium intrahepatic bile ducts which leads to cirrhosis and finally to liver transplantation or death (Invernizzi et al. 2010). PBC is a rare condition being present in about 1 of 1,000 women over the age of 40, and ursodeoxycholic acid is the only approved therapy. Liver transplantation is also a possible therapeutic option in patients with end-stage liver disease. The presence of specific serum and cell-mediated responses against defined self-antigens, the increased risk of developing PBC or another autoimmune disorder among family members, and a striking female predominance (female to male ratio up to 10:1) indicated the autoimmune pathogenesis of PBC (Invernizzi et al. 2008). The current hypothesis on its etiopathogenesis implies that the disease results...

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References

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Liver Unit and Center for Autoimmune Liver DiseasesHumanitas Clinical and Research CenterRozzanoItaly